Inborn Errors of Metabolism in Humans: Monograph based upon Proceedings of the International Symposium held in Interlaken, Switzerland, September 2–5, 1980

Front Matter....Pages i-xv
Front Matter....Pages 1-1
Molecular aspects of genetic heterogeneity....Pages 3-11
Inborn errors of purine metabolism....Pages 13-36
Vitamin-responsive inherited metabolic disorders: propionic acidaemia and methylmalonic acidaemia....Pages 37-52
Homocystinuria: clinical and biochemical heterogeneity....Pages 53-67
Hereditary defects of steroid biosynthesis....Pages 69-86
Blood—brain barrier amino-acid transport: clinical implications....Pages 87-99
Front Matter....Pages 101-101
Recent studies on the maturation of lysosomal enzymes....Pages 103-110
Enzyme substitution by fibroblast transplantation....Pages 111-129
Artificial cell-encapsulated enzymes and adsorbents in congenital metabolic disorders....Pages 131-138
Prospects for enzyme replacement therapy in heritable metabolic disorders....Pages 139-154
Front Matter....Pages 155-155
Inborn errors of metabolism affecting brain development — Introduction....Pages 157-160
Mutations in mice affecting brain development and their correlations with human diseases....Pages 161-171
Murine mutations affecting myelination: models to study myelin diseases in the human....Pages 173-192
The effect of phenylalanine on myelin metabolism in adolescent rats....Pages 193-199
Abnormal oligodendrocyte differentiation in a mouse mutant with defect in myelination....Pages 201-208
Front Matter....Pages 209-209
Inborn errors of metabolism — consequences of long-term treatment for the individual, as derived from observations in phenylketonuria....Pages 211-223
Social aspects of the handicapped person....Pages 225-236
Psychological and educational aspects of handicap....Pages 237-253
Repercussions of screening....Pages 255-265
Some principles in the management of inherited metabolic disease....Pages 267-285
Back Matter....Pages 287-296